Canonical Allele Identifier: CA1167985712
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061490C= , CM000663.2:g.55061490C= GRCh38
NC_000001.10:g.55527163C= , CM000663.1:g.55527163C= GRCh37
NC_000001.9:g.55299751C= NCBI36
NG_009061.1:g.26944C= , LRG_275:g.26944C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*137C= ENSP00000501161.2:n.*137C=
ENST00000710286.1:c.2154C= ENSP00000518176.1:p.Ser718=
ENST00000673903.1:c.1422C= ENSP00000501257.1:p.Ser474=
ENST00000673913.1:c.647C= ENSP00000501161.1:n.647C=
ENST00000302118.5:c.1797C= MANE Select ENSP00000303208.5:p.Ser599=
ENST00000490692.1:n.2343C=
NM_174936.3:c.1797C= , LRG_275t1:c.1797C= NP_777596.2:p.Ser599=
NR_110451.1:n.1404C=
XM_011541193.1:c.918C= XP_011539495.1:p.Ser306=
NM_174936.4:c.1797C= MANE Select NP_777596.2:p.Ser599=
NR_110451.2:n.1404C=